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primary hyperoxaluria and oxalosis


Definition: a metabolic disorder, usually evident clinically in the first decade of life, characterized by calcium oxalate nephrocalcinosis and nephrolithiasis, extrarenal oxalosis, and increased urinary output of oxalic and glycolic acids, leading to progressive renal failure and uremia. Type I is due to a deficiency in alanine-glyoxylate aminotransferase and type II to a deficiency in d-glycerate dehydrogenase; the latter is a milder disease with a better long-term prognosis for renal function. Both types are inherited as autosomal recessive, caused by mutation in the alanine-glyoxylate aminotransferase gene (AGXT) on 2q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.